ReviewJournal of genetics and genomics = Yi chuan xue bao2015
Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update.
Review in Journal of genetics and genomics = Yi chuan xue bao, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 87 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
87 citing papers in PubMed, 1 synthesis or guideline pooled it, 154 citations in OpenAlex.
- Neuropsychological attributes of urea cycle disorders: A systematic review of the literature.Journal of inherited metabolic disease · 2019Pooled it
- Functional editing of the OTC locus by targeted integration with phenotype correction and restoration of endogenous expression patterns.Molecular therapy : the journal of the American Society of Gene Therapy · 2026Article
- Pedigree and Functional Analysis of Two Cryptic OTC Variants Causing Ornithine Transcarbamylase Deficiency in Two Unrelated Chinese Male Patients.Molecular genetics & genomic medicine · 2026Article
- Recessive PPTC7 deficiency triggers excessive mitophagy to cause a severe inborn error of metabolism with hypomyelinating leukodystrophy.Research square · 2026Article
- Realgar-Induced CNS Toxicity: Exploring OTC-Mediated Ornithine Regulation of ZBTB7A Inhibits Astrocyte Glycolysis Based on the Liver-Brain Axis.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Fatal ornithine transcarbamylase deficiency presentation postresection of fourth ventricle ependymoma: illustrative case.Journal of neurosurgery. Case lessons · 2025Article
- Mapping Disorders with Neurological Features Through Mitochondrial Impairment Pathways: Insights from Genetic Evidence.Current issues in molecular biology · 2025Review
- Biochemical Characterization of Disease-Associated Variants of Human Ornithine Transcarbamylase.ACS chemical biology · 2025Article
- Novel Treatment Strategy for Patients With Urea Cycle Disorders: Pharmacological Chaperones Enhance Enzyme Stability and Activity in Patient-Derived Liver Disease Models.Journal of inherited metabolic disease · 2025Article
- The Establishment of Expanded Newborn Screening in Rural Areas of a Developing Country: A Model from Health Regions 7 and 8 in Thailand.International journal of neonatal screening · 2025Article
- Clinical and biochemical characteristics of patients with ornithine transcarbamylase deficiency and in silico analysis of OTC gene.Orphanet journal of rare diseases · 2025Article
- Characterization of a novel conditional knockout mouse model to assess efficacy of mRNA therapy in the context of severe OTC deficiency.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- Establishment and evaluation of a method for measuring ornithine transcarbamylase activity in micro blood of neonates.Orphanet journal of rare diseases · 2025Article
- Article
- Clinical and Genetic Analysis of 8 Children With Ornithine Transcarbamylase Deficiency: Two Novel Mutations.Neurology. Genetics · 2024Article
- Clinical characteristics and molecular genetic analysis of ten cases of ornithine carbamoyltransferase deficiency in southeastern China.Italian journal of pediatrics · 2024Article
- Variant analysis and PGT-M of OTC gene in a Chinese family with ornithine carbamoyltransferase deficiency.BMC pregnancy and childbirth · 2024Article
- Article
- Arginine Biosynthesis Mediates Wulingzhi Extract Resistance to Busulfan-Induced Male Reproductive Toxicity.International journal of molecular sciences · 2024Article
- Corticosteroid-induced hyperammonaemic encephalopathy in a woman with late-onset ornithine transcarbamylase deficiency.BMJ case reports · 2024Article
27 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
Ornithine transcarbamylase (OTC) deficiency is an X-linked trait that accounts for nearly half of all inherited disorders of the urea cycle. OTC is one of the enzymes common to both the urea cycle and the bacterial arginine biosynthesis pathway; however, the role of OTC has changed over evolution. For animals with a urea cycle, defects in OTC can trigger hyperammonemic episodes that can lead to brain damage and death. This is the fifth mutation update for human OTC with previous updates reported in 1993, 1995, 2002, and 2006. In the 2006 update, 341 mutations were reported. This current update contains 417 disease-causing mutations, and also is the first report of this series to incorporate information about natural variation of the OTC gene in the general population through examination of publicly available genomic data and examination of phenotype/genotype correlations from patients participating in the Urea Cycle Disorders Consortium Longitudinal Study and the first to evaluate the suitability of systematic computational approaches to predict severity of disease associated with different types of OTC mutations.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.